Canonical Allele Identifier: CA340708
Gene: TBX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7856
ClinVar RCV Id: RCV000008306
dbSNP Id: rs104894648

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61456674C>T , CM000679.2:g.61456674C>T GRCh38
NC_000017.10:g.59534035C>T , CM000679.1:g.59534035C>T GRCh37
NC_000017.9:g.56888817C>T NCBI36
NG_008080.1:g.5229C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000642491.1:c.184C>T ENSP00000495714.1:p.Gln62Ter
ENST00000644296.1:c.184C>T MANE Select ENSP00000495986.1:p.Gln62Ter
ENST00000240335.1:c.184C>T ENSP00000240335.1:p.Gln62Ter
ENST00000393853.8:c.184C>T ENSP00000377435.3:p.Gln62Ter
ENST00000589003.5:c.-75C>T ENSP00000467588.1:n.-75C>T
NM_018488.2:c.184C>T NP_060958.2:p.Gln62Ter
XM_005257835.3:c.184C>T XP_005257892.2:p.Gln62Ter
XM_005257837.2:c.184C>T XP_005257894.1:p.Gln62Ter
XM_011525490.1:c.373C>T XP_011523792.1:p.Gln125Ter
XM_011525491.1:c.373C>T XP_011523793.1:p.Gln125Ter
XM_011525492.1:c.184C>T XP_011523794.1:p.Gln62Ter
XM_011525493.1:c.184C>T XP_011523795.1:p.Gln62Ter
XM_011525494.1:c.184C>T XP_011523796.1:p.Gln62Ter
XM_011525495.1:c.373C>T XP_011523797.1:p.Gln125Ter
NM_001321120.2:c.184C>T MANE Select NP_001308049.1:p.Gln62Ter
NM_018488.3:c.184C>T NP_060958.2:p.Gln62Ter
XM_011525490.2:c.373C>T XP_011523792.1:p.Gln125Ter
XM_011525491.2:c.373C>T XP_011523793.1:p.Gln125Ter
XM_011525495.2:c.373C>T XP_011523797.1:p.Gln125Ter